Canonical Allele Identifier: CA3242508

Gene: LIFR

Linked Data

• ClinVar Variation Id: 618703
• ClinVar RCV Id: RCV000757433 ; RCV001000059
• dbSNP Id: rs138418444
• ExAC: 5:38481904 T / C
• gnomAD v2: 5-38481904-T-C
• gnomAD v3: 5-38481802-T-C
• gnomAD v4: 5-38481802-T-C
• MyVariant Identifiers: chr5:g.38481904T>C (hg19) ; chr5:g.38481802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38481802T>C , CM000667.2:g.38481802T>C	GRCh38
NC_000005.9:g.38481904T>C , CM000667.1:g.38481904T>C	GRCh37
NC_000005.8:g.38517661T>C	NCBI36
NG_011817.1:g.118604A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.3087A>G MANE Select	ENSP00000398368.2:p.Arg1029=
ENST00000263409.8:c.3087A>G	ENSP00000263409.4:p.Arg1029=
ENST00000453190.6:c.3087A>G	ENSP00000398368.2:p.Arg1029=
NM_001127671.1:c.3087A>G	NP_001121143.1:p.Arg1029=
NM_002310.5:c.3087A>G	NP_002301.1:p.Arg1029=
XM_011514040.1:c.3087A>G	XP_011512342.1:p.Arg1029=
XM_011514041.1:c.3087A>G	XP_011512343.1:p.Arg1029=
XM_011514042.1:c.3087A>G	XP_011512344.1:p.Arg1029=
NM_001364297.1:c.3087A>G	NP_001351226.1:p.Arg1029=
NM_001364298.1:c.3054A>G	NP_001351227.1:p.Arg1018=
XM_011514042.3:c.3087A>G	XP_011512344.1:p.Arg1029=
XM_017009462.1:c.3141A>G	XP_016864951.1:p.Arg1047=
XM_017009463.1:c.3087A>G	XP_016864952.1:p.Arg1029=
NM_001127671.2:c.3087A>G MANE Select	NP_001121143.1:p.Arg1029=
NM_002310.6:c.3087A>G	NP_002301.1:p.Arg1029=
NM_001364297.2:c.3087A>G	NP_001351226.1:p.Arg1029=
NM_001364298.2:c.3054A>G	NP_001351227.1:p.Arg1018=